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Gene: COX17 |
Gene summary for COX17 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | COX17 | Gene ID | 10063 |
| Gene name | cytochrome c oxidase copper chaperone COX17 | |
| Gene Alias | COX17 | |
| Cytomap | 3q13.33 | |
| Gene Type | protein-coding | GO ID | GO:0000041 | UniProtAcc | Q14061 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 10063 | COX17 | P89T-E | Human | Esophagus | ESCC | 5.26e-36 | 3.11e+00 | 0.1752 |
| 10063 | COX17 | P91T-E | Human | Esophagus | ESCC | 6.35e-18 | 2.66e+00 | 0.1828 |
| 10063 | COX17 | P94T-E | Human | Esophagus | ESCC | 5.66e-04 | 1.54e+00 | 0.0879 |
| 10063 | COX17 | P104T-E | Human | Esophagus | ESCC | 8.73e-11 | 1.39e+00 | 0.0931 |
| 10063 | COX17 | P107T-E | Human | Esophagus | ESCC | 1.32e-84 | 2.31e+00 | 0.171 |
| 10063 | COX17 | P126T-E | Human | Esophagus | ESCC | 7.16e-22 | 2.20e+00 | 0.1125 |
| 10063 | COX17 | P127T-E | Human | Esophagus | ESCC | 1.37e-26 | 5.66e-01 | 0.0826 |
| 10063 | COX17 | P128T-E | Human | Esophagus | ESCC | 1.22e-58 | 2.17e+00 | 0.1241 |
| 10063 | COX17 | P130T-E | Human | Esophagus | ESCC | 2.96e-61 | 1.42e+00 | 0.1676 |
| 10063 | COX17 | S41 | Human | Liver | Cirrhotic | 2.50e-02 | -6.18e-01 | -0.0343 |
| 10063 | COX17 | S43 | Human | Liver | Cirrhotic | 1.41e-21 | -6.29e-01 | -0.0187 |
| 10063 | COX17 | HCC1_Meng | Human | Liver | HCC | 1.56e-82 | 5.08e-02 | 0.0246 |
| 10063 | COX17 | HCC2_Meng | Human | Liver | HCC | 5.98e-53 | -1.95e-02 | 0.0107 |
| 10063 | COX17 | cirrhotic1 | Human | Liver | Cirrhotic | 5.28e-21 | 1.68e-01 | 0.0202 |
| 10063 | COX17 | cirrhotic2 | Human | Liver | Cirrhotic | 1.15e-26 | 1.51e-01 | 0.0201 |
| 10063 | COX17 | cirrhotic3 | Human | Liver | Cirrhotic | 1.38e-15 | 1.72e-01 | 0.0215 |
| 10063 | COX17 | p6 | Human | Liver | Cyst | 5.56e-06 | -7.20e-01 | -0.0218 |
| 10063 | COX17 | HCC1 | Human | Liver | HCC | 1.81e-08 | 4.23e+00 | 0.5336 |
| 10063 | COX17 | HCC2 | Human | Liver | HCC | 7.26e-22 | 4.46e+00 | 0.5341 |
| 10063 | COX17 | HCC5 | Human | Liver | HCC | 1.27e-03 | 3.93e-01 | 0.4932 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Breast |  | IDC: Invasive ductal carcinoma |
| DCIS: Ductal carcinoma in situ | ||
| Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers | ||
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| Tissue | Disease Stage | Enriched GO biological Processes |
| Colorectum | AD |  |
| Colorectum | SER |  |
| Colorectum | MSS |  |
| Colorectum | MSI-H |  |
| Colorectum | FAP |  |
| ∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:00060918 | Breast | Precancer | generation of precursor metabolites and energy | 94/1080 | 490/18723 | 1.54e-25 | 1.64e-22 | 94 |
| GO:19026008 | Breast | Precancer | proton transmembrane transport | 39/1080 | 157/18723 | 4.18e-15 | 1.18e-12 | 39 |
| GO:00331088 | Breast | Precancer | mitochondrial respiratory chain complex assembly | 24/1080 | 93/18723 | 3.39e-10 | 3.16e-08 | 24 |
| GO:00434677 | Breast | Precancer | regulation of generation of precursor metabolites and energy | 22/1080 | 130/18723 | 4.95e-06 | 1.51e-04 | 22 |
| GO:00324116 | Breast | Precancer | positive regulation of transporter activity | 16/1080 | 120/18723 | 1.46e-03 | 1.51e-02 | 16 |
| GO:00347673 | Breast | Precancer | positive regulation of ion transmembrane transport | 19/1080 | 167/18723 | 3.60e-03 | 2.98e-02 | 19 |
| GO:00324143 | Breast | Precancer | positive regulation of ion transmembrane transporter activity | 14/1080 | 109/18723 | 3.97e-03 | 3.15e-02 | 14 |
| GO:00228985 | Breast | Precancer | regulation of transmembrane transporter activity | 27/1080 | 278/18723 | 5.72e-03 | 4.11e-02 | 27 |
| GO:00000412 | Breast | Precancer | transition metal ion transport | 13/1080 | 105/18723 | 7.35e-03 | 4.89e-02 | 13 |
| GO:000609113 | Breast | IDC | generation of precursor metabolites and energy | 103/1434 | 490/18723 | 1.53e-21 | 1.74e-18 | 103 |
| GO:190260012 | Breast | IDC | proton transmembrane transport | 40/1434 | 157/18723 | 7.34e-12 | 1.34e-09 | 40 |
| GO:003310813 | Breast | IDC | mitochondrial respiratory chain complex assembly | 28/1434 | 93/18723 | 1.54e-10 | 1.83e-08 | 28 |
| GO:004346713 | Breast | IDC | regulation of generation of precursor metabolites and energy | 23/1434 | 130/18723 | 1.29e-04 | 2.34e-03 | 23 |
| GO:003241111 | Breast | IDC | positive regulation of transporter activity | 20/1434 | 120/18723 | 7.64e-04 | 9.27e-03 | 20 |
| GO:00432703 | Breast | IDC | positive regulation of ion transport | 36/1434 | 275/18723 | 1.11e-03 | 1.22e-02 | 36 |
| GO:002289812 | Breast | IDC | regulation of transmembrane transporter activity | 36/1434 | 278/18723 | 1.35e-03 | 1.40e-02 | 36 |
| GO:003241411 | Breast | IDC | positive regulation of ion transmembrane transporter activity | 18/1434 | 109/18723 | 1.53e-03 | 1.53e-02 | 18 |
| GO:003476711 | Breast | IDC | positive regulation of ion transmembrane transport | 24/1434 | 167/18723 | 2.07e-03 | 1.95e-02 | 24 |
| GO:00324125 | Breast | IDC | regulation of ion transmembrane transporter activity | 33/1434 | 267/18723 | 4.38e-03 | 3.40e-02 | 33 |
| GO:00324096 | Breast | IDC | regulation of transporter activity | 37/1434 | 310/18723 | 4.77e-03 | 3.66e-02 | 37 |
| Page: 1 2 3 4 5 6 7 8 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0019016 | Breast | Precancer | Oxidative phosphorylation | 59/684 | 134/8465 | 6.15e-30 | 3.24e-28 | 2.48e-28 | 59 |
| hsa0471418 | Breast | Precancer | Thermogenesis | 68/684 | 232/8465 | 4.40e-22 | 1.26e-20 | 9.69e-21 | 68 |
| hsa0019017 | Breast | Precancer | Oxidative phosphorylation | 59/684 | 134/8465 | 6.15e-30 | 3.24e-28 | 2.48e-28 | 59 |
| hsa0471419 | Breast | Precancer | Thermogenesis | 68/684 | 232/8465 | 4.40e-22 | 1.26e-20 | 9.69e-21 | 68 |
| hsa0019023 | Breast | IDC | Oxidative phosphorylation | 62/867 | 134/8465 | 4.78e-27 | 2.59e-25 | 1.94e-25 | 62 |
| hsa0471424 | Breast | IDC | Thermogenesis | 75/867 | 232/8465 | 8.41e-21 | 3.04e-19 | 2.27e-19 | 75 |
| hsa0019033 | Breast | IDC | Oxidative phosphorylation | 62/867 | 134/8465 | 4.78e-27 | 2.59e-25 | 1.94e-25 | 62 |
| hsa0471434 | Breast | IDC | Thermogenesis | 75/867 | 232/8465 | 8.41e-21 | 3.04e-19 | 2.27e-19 | 75 |
| hsa0019043 | Breast | DCIS | Oxidative phosphorylation | 61/846 | 134/8465 | 9.84e-27 | 5.30e-25 | 3.90e-25 | 61 |
| hsa0471443 | Breast | DCIS | Thermogenesis | 74/846 | 232/8465 | 8.72e-21 | 3.13e-19 | 2.30e-19 | 74 |
| hsa0019053 | Breast | DCIS | Oxidative phosphorylation | 61/846 | 134/8465 | 9.84e-27 | 5.30e-25 | 3.90e-25 | 61 |
| hsa0471453 | Breast | DCIS | Thermogenesis | 74/846 | 232/8465 | 8.72e-21 | 3.13e-19 | 2.30e-19 | 74 |
| hsa0019018 | Cervix | CC | Oxidative phosphorylation | 64/1267 | 134/8465 | 1.25e-19 | 8.07e-18 | 4.77e-18 | 64 |
| hsa0471420 | Cervix | CC | Thermogenesis | 76/1267 | 232/8465 | 4.29e-12 | 1.16e-10 | 6.85e-11 | 76 |
| hsa0019019 | Cervix | CC | Oxidative phosphorylation | 64/1267 | 134/8465 | 1.25e-19 | 8.07e-18 | 4.77e-18 | 64 |
| hsa04714110 | Cervix | CC | Thermogenesis | 76/1267 | 232/8465 | 4.29e-12 | 1.16e-10 | 6.85e-11 | 76 |
| hsa00190 | Colorectum | AD | Oxidative phosphorylation | 86/2092 | 134/8465 | 2.47e-22 | 2.76e-20 | 1.76e-20 | 86 |
| hsa04714 | Colorectum | AD | Thermogenesis | 120/2092 | 232/8465 | 2.76e-19 | 1.16e-17 | 7.37e-18 | 120 |
| hsa001901 | Colorectum | AD | Oxidative phosphorylation | 86/2092 | 134/8465 | 2.47e-22 | 2.76e-20 | 1.76e-20 | 86 |
| hsa047141 | Colorectum | AD | Thermogenesis | 120/2092 | 232/8465 | 2.76e-19 | 1.16e-17 | 7.37e-18 | 120 |
| Page: 1 2 3 4 |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
| Page: 1 |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
| ∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
| COX17 | SNV | Missense_Mutation | novel | c.100G>C | p.Asp34His | p.D34H | Q14061 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AQ-A7U7-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Targeted Molecular therapy | rituximab | CR |
| COX17 | SNV | Missense_Mutation | novel | c.44A>G | p.Gln15Arg | p.Q15R | Q14061 | protein_coding | tolerated(0.24) | benign(0.124) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| COX17 | SNV | Missense_Mutation | novel | c.118A>G | p.Lys40Glu | p.K40E | Q14061 | protein_coding | tolerated(0.13) | possibly_damaging(0.524) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| COX17 | SNV | Missense_Mutation | c.115G>A | p.Glu39Lys | p.E39K | Q14061 | protein_coding | tolerated(0.07) | possibly_damaging(0.857) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | |
| COX17 | SNV | Missense_Mutation | novel | c.104N>T | p.Ala35Val | p.A35V | Q14061 | protein_coding | tolerated(0.12) | benign(0.01) | TCGA-SJ-A6ZI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| COX17 | SNV | Missense_Mutation | novel | c.10N>G | p.Leu4Val | p.L4V | Q14061 | protein_coding | tolerated(0.46) | benign(0.001) | TCGA-CR-6480-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | paclitaxel | SD |
| Page: 1 |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
| Page: 1 |
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